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Participant-guided development of bilingual genomic educational infographics for Electronic Medical Records and Genomics Phase IV study.
Casillan A, Florido ME, Galarza-Cornejo J, Bakken S, Lynch JA, Chung WK, Mittendorf KF, Berner ES, Connolly JJ, Weng C, Holm IA, Khan A, Kiryluk K, Limdi NA, Petukhova L, Sabatello M, Wynn J. Casillan A, et al. Among authors: holm ia. J Am Med Inform Assoc. 2024 Jan 18;31(2):306-316. doi: 10.1093/jamia/ocad207. J Am Med Inform Assoc. 2024. PMID: 37860921 Free PMC article.
VarSight: prioritizing clinically reported variants with binary classification algorithms.
Holt JM, Wilk B, Birch CL, Brown DM, Gajapathy M, Moss AC, Sosonkina N, Wilk MA, Anderson JA, Harris JM, Kelly JM, Shaterferdosian F, Uno-Antonison AE, Weborg A; Undiagnosed Diseases Network; Worthey EA. Holt JM, et al. BMC Bioinformatics. 2019 Oct 15;20(1):496. doi: 10.1186/s12859-019-3026-8. BMC Bioinformatics. 2019. PMID: 31615419 Free PMC article.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Diverse Participant Recruitment for Infant Sequencing in the BabySeq Project.
Del Rosario MC, Walmsley SA, Harrison BW, Stephens CT, Zettler B, Rivera-Cruz G, Agrawal P, Brower A, Chigbu S, Christensen KD, Genetti CA, Givens R, Gold NB, Reeves IV, Schichter I, Shariat H, Simon S, Smith HS, Uveges M, Green RC, Holm IA, Pereira S. Del Rosario MC, et al. Among authors: holm ia. medRxiv [Preprint]. 2024 Oct 7:2024.10.01.24314717. doi: 10.1101/2024.10.01.24314717. medRxiv. 2024. PMID: 39417101 Free PMC article. Preprint.
262 results